Presentation Points Presentation Points

Recent Advances in the Management of Gaucher Disease Type 3


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Presentation Points Presentation Points
By clicking "Continue," you are confirming that you have reviewed the CME information and read, understood, and unconditionally agreed to the Privacy Notice and Terms of Use.


Maximum Credits:
Presentation Points Presentation Points
By clicking "Continue," you are confirming that you have reviewed the CME information and read, understood, and unconditionally agreed to the Privacy Notice and Terms of Use.


Maximum Credits:

Overview: This transcript-based, CME-accredited Presentation Points publication highlights key points from a satellite symposium presented by nationally renowned experts on Gaucher disease type 3 (GD3) Pramod K. Mistry, MD, PhD, FRCP, and Raphael Schiffmann, MD, MHSc, FAAN. Faculty review the diagnostic potential of various investigational GD3 biomarkers and provide insight on recent clinical advances in the treatment of patients with GD3.

CME Information:

Pramod K. Mistry, MD, PhD, FRCP
Professor of Medicine, Pediatrics, and Cellular & Molecular Physiology
Director, Metabolic Liver and Lysosomal Disease Program
Yale University School of Medicine
Department of Internal Medicine
Yale New Haven Hospital
New Haven, CT
Raphael Schiffmann, MD, MHSc, FAAN
Director, Institute of Metabolic Disease, Baylor Scott & White Research Institute
Dallas, TX

Activity Planners
Iwona Misiuta, PhD, MHA
Clinical Content Manager
Baltimore, MD
Samantha Gordon
CME Specialist
Baltimore, MD
Kathryn Schaefer, MSN, RN, CPHRM
Senior Manager, Accreditation and Compliance
East Lansing, MI
Learning Objectives
Upon completion, participants should be able to:

  • Outline the diagnostic potential of various GD3 biomarkers currently under investigation
  • Evaluate recent clinical data on the treatment of GD3

Target Audience
This activity is intended for hematologist/oncologists; pediatricians; medical, translational, molecular, and research geneticists; and other healthcare professionals with an interest in the clinical management of patients with lysosomal disorders.
Statement of Need
GD3 is a subtype of one of the most common lysosomal disorders, GD. Like all subtypes of GD, GD3 is caused by various mutations to the GBA1 gene, which encodes glucocerebrosidase. GD3, also known as chronic neuronopathic GD, is associated with a wide spectrum of visceral and neurologic manifestations. The GD3 phenotype is further divided into 3 subgroups based on the severity of visceral symptoms and cardiac involvement. Determining the genotype variations in GD3 that lead to different phenotypes and disease progression is an area of active research.
Diagnosing GD3 can be challenging as the divisions between the different types of GD are still being identified. Indeed, the manifestations of GD can be described as a phenotypic continuum. Thus, it has become increasingly evident that biomarkers might hold the key to differentiating diagnosis; several biomarkers are under investigation.
Currently, no treatments are specifically approved for GD3; however, mounting evidence suggests that enzyme replacement therapy (ERT) in combination with substrate-reduction therapy (SRT) might be an effective treatment. New therapies specifically for patients with GD3 are under investigation.

Providership Statement
Provided by Med-IQ.

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Med-IQ is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Med-IQ designates this enduring material for a maximum of 0.5 AMA PRA Category 1 Credit™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.

Nurse practitioners, physician assistants, and other healthcare professionals who successfully complete the activity will receive a Statement of Participation indicating the maximum credits available.

Medium/Method of Participation
This CME activity consists of a 0.5-credit publication. To receive credit, read the introductory CME material, read the publication, and complete the post-survey, evaluation, attestation, and post-test, answering at least 70% of the post-test questions correctly.
Initial Release Date: April 26, 2019
Expiration Date: April 25, 2020
Estimated Time to Complete This Activity: 30 minutes

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Med-IQ requires any person in a position to control the content of an educational activity to disclose all relevant financial relationships with any commercial interest. The ACCME defines “relevant financial relationships” as those in any amount occurring within the past 12 months, including those of a spouse/life partner, that could create a conflict of interest (COI). Individuals who refuse to disclose will not be permitted to contribute to this CME activity in any way. Med-IQ has policies in place that will identify and resolve COIs prior to this educational activity. Med-IQ also requires faculty to disclose discussions of investigational products or unlabeled/unapproved uses of drugs or devices regulated by the US Food and Drug Administration.
Disclosure Statement
The content of this activity has been peer reviewed and has been approved for compliance. The faculty and contributors have indicated the following financial relationships, which have been resolved through an established COI resolution process, and have stated that these reported relationships will not have any impact on their ability to give an unbiased presentation. 
Pramod K. Mistry, MD, PhD, FRCP
Consulting fees/advisory boards: Sanofi Genzyme
Fees received for promotional/non-CME activities: Sanofi Genzyme
Contracted research: Sanofi Genzyme
Raphael Schiffmann, MD, MHSc, FAAN
Consulting fees/advisory boards: 4D Pharma, Amicus Therapeutics, Freeline, Prevail Therapeutics, Protalix Biotherapeutics
Contracted research and research support: Amicus Therapeutics, Protalix Biotherapeutics, Sanofi Genzyme, Shire Pharmaceuticals

The peer reviewers and activity planners have no financial relationships to disclose.

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Educational activities that assist physicians in carrying out their professional responsibilities more effectively and efficiently are consistent with the ACCME definition of continuing medical education (CME). As an ACCME-accredited provider of CME, Med-IQ has a policy to review and ensure that all the content and any recommendations, treatments, and manners of practicing medicine in CME activities are scientifically based, valid, and relevant to the practice of medicine. Med-IQ is responsible for validating the content of the CME activities it provides. Specifically, (1) all recommendations addressing the medical care of patients must be based on evidence that is scientifically sound and recognized as such within the profession; (2) all scientific research referred to, reported, or used in CME in support or justification of a patient care recommendation must conform to generally accepted standards of experimental design, data collection, and analysis.
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Acknowledgment of Commercial Support
This activity is supported by an educational grant from Sanofi Genzyme.

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